Lv52
1320 积分 2025-05-15 加入
Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy
1个月前
已完结
Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy
1个月前
已完结
Expanding spectrum of scn1a-related phenotype with novel mutations
1个月前
已完结
[Clinical phenotypes of TBC1D24 gene related epilepsy]
1个月前
已完结
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
1个月前
已完结
Familial amyloid polyneuropathy related to transthyretin mutation VaL30 to Leu in a Japanese family
1个月前
已完结
Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients
1个月前
已完结
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
2个月前
已完结
Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in‐depth exploration
3个月前
已完结
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